Varaico: Literature-Extracted Genetic Variants

Gene:MDGA1
Variant:p.P935S
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MDGA1

NM_153487.4:p.P935S

Associated Papers

Genetic investigations on singleton school aged children reveal novel variants and new candidate genes for hearing loss.

Khan H et al.

Scientific Reports, 2024

39271758 (PubMed )
Supplement: 41598_2024_71407_MOESM1_ESM.xlsx › HPK5_het

Rare variant based evidence for oligogenic contribution of neurodevelopmental pathway genes to schizophrenia.

John J et al.

Schizophrenia Research, 2019

Loss of the proprioception and touch sensation channel PIEZO2 in siblings with a progressive form of contractures.

Mahmud AA et al.

Clinical Genetics, 2017

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."